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LDLR gene

Known as: LDLR, familial hypercholesterolemia, LDLCQ2 
This gene plays a role in the modulation of ligand-specific receptor-mediated endocytosis, and also plays a regulatory role in cholesterol synthesis.
National Institutes of Health

Related topics

Related topics

9 relations
Cholesterol HomeostasisHypercholesterolemia, FamilialHyperlipoproteinemia Type IIaLDLR protein, human

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LDLR wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2008
2008
Adenoviral low density lipoprotein receptor attenuates progression of atherosclerosis and decreases tissue cholesterol levels in a murine model of familial hypercholesterolemia.
2006
2006
Characterization of low density lipoprotein receptor ligand interactions by fluorescence resonance energy transfer Published, JLR Papers in Press, February 8, 2006.
The low density lipoprotein receptor (LDLR) is the prototype of a family of cell surface receptors involved in a wide range of… 
2005
2005
Worldwide Genetic Variation at the 3′‐UTR Region of the LDLR Gene: Possible Influence of Natural Selection
The low density lipoprotein receptor gene (LDLR) contains many Alu insertions, and is especially Alu‐rich at its 3′‐untranslated… 
2000
2000
Binding of an Antibody Mimetic of the Human Low Density Lipoprotein Receptor to Apolipoprotein E Is Governed through Electrostatic Forces
Monoclonal antibody 2E8 is specific for an epitope that coincides with the binding site of the low density lipoprotein receptor… 
1998
1998
A Minimal Binding Domain of the Low Density Lipoprotein Receptor Family
As more relatives of the low density lipoprotein receptor (LDLR) are discovered, defining their minimal binding domain(s) becomes… 
1997
1997
A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia
Abstract Two novel mutations Q363X and D365E were identified in the low-density lipoprotein receptor gene in a Cypriot patient… 
1995
1995
Association of HincII RFLP of low density lipoprotein receptor gene with obesity in essential hypertensives
Obese (BMI 26 kg/m2; n=51) and lean (BMI <26 kg/m2; n=61) Caucasian patients with severe, familial essential hypertension, were… 
1993
1993
Haplotype analysis at the low density lipoprotein receptor locus in normal and familial hypercholesterolemia Norwegian subjects
Rødningen OK, Leren TP, Røsby O, Tonstad S, Ose L, Berg K. Haplotype analysis at the low density lipoprotein receptor locus in… 
1983
1983
Partial ileal bypass inhibits atherosclerosis in WHHL rabbits.
Review
1979
Review
1979
Familial hypercholesterolemia: model for genetic receptor disease.
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